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3-Hydroxymethylglutaric acid
3-Hydroxymethylglutaric acid is a metabolite that accumulates in the urine of patients affected by 3-Hydroxy-3-methylglutaric aciduria, a rare inborn error of metabolism (OMIM 246450). 3-Hydroxy-3-methylglutaric aciduria is caused by reduced enzyme activity of the intramitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase (EC 4.1.3.4), the enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. The profile of urinary organic acids is different from that of the other identified defects of leucine degradation--maple syrup urine disease (OMIM 248600), isovaleric acidemia (OMIM 243500), and methylcrotonylglycinemia (OMIM 210200). Clinical manifestations include hepatomegaly, lethargy or coma and apnoea. Biochemically there is a characteristic absence of ketosis with hypoglycemia, acidosis, hipertransaminasemia and variable hyperammoniemia. The urinary organic acid profile includes elevated concentrations of 3-hydroxy-3-isovaleric, 3-hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids. (PMID: 10916782, 9658458, 3063529)
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  1. 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
  2. GLUTARIC ACIDURIA I
  3. GLUTARIC ACIDURIA II
  4. BETA-MANNOSIDOSIS
  5. CYSTINOSIS
Autoren: Prof. Dr. Friedrich Trefz, Dr. Frauendienst und Hermann Götz. E-Mail: trefz_f@kreiskliniken-reutlingen.de
Last update 29.12.2009 07:05:52